Disorder of melanin metabolism

This early-phase trial tests a single injection of JWK010 gene therapy in 18 children aged 5 to 12 with oculocutaneous albinism type 1 (OCA1). OCA1 is caused by a gene change that prevents the body from making pigment, leading to vision problems and light sensitivity. The therapy…

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin/eye color, bleeding problems, and often deadly lung scarring. Researchers will follow 600 people with HPS and their family members to track how the disease progres…

This study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

This study investigates whether serotonin, a chemical in the body, affects symptoms of oculocutaneous albinism in children. Researchers will measure serotonin levels in 160 children with and without albinism. The goal is to better understand the condition, not to test a new treat…